SCYGR5

Summary

SCYGR5 (small cysteine and glycine repeat containing 5, HGNC:34224) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 5 (A0A286YF46). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in intermediate filament.

Source: NCBI Gene 112441437 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34224
Approved symbol	SCYGR5
Name	small cysteine and glycine repeat containing 5
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-5
Ensembl gene	ENSG00000284667
Ensembl biotype	protein_coding
Entrez	112441437

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641976

RefSeq mRNA: 1 — MANE Select: NM_001395406 NM_001395406

CCDS: CCDS92956

Canonical transcript exons

ENST00000641976 — 1 exons

Exon	Start	End
ENSE00003812181	227666804	227667061

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 38.49.

Top tissues by expression

118 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	38.49	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.42	silver quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.74	gold quality
leukocyte	CL:0000738	27.72	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.09	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.10	silver quality
endocervix	UBERON:0000458	24.78	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.41	silver quality
frontal cortex	UBERON:0001870	24.28	silver quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.13

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 5 — A0A286YF46 (reviewed: A0A286YF46)

Alternative names: Keratin-associated protein 28-5

All UniProt accessions (1): A0A286YF46

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Miscellaneous. Human have a similar number of genes as other primates despite the relative hairlessness of humans.

Similarity. Belongs to the KRTAP type 28 family.

RefSeq proteins (1): NP_001382335* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YF46-F1	42.07	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, chr2q36

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): intermediate filament (GO:0005882)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O14633, P02438, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T750, Q5T752, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q8IUC1, Q8IUG1, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

550 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227666966:T:C	C55R	0.957
2:227666885:T:C	C28R	0.951
2:227666888:T:G	Y29D	0.950
2:227666968:C:G	C55W	0.944
2:227666887:C:G	C28W	0.942
2:227666950:C:G	C49W	0.940
2:227666948:T:C	C49R	0.938
2:227666915:T:C	C38R	0.937
2:227666892:G:C	R30P	0.935
2:227666924:T:C	C41R	0.934
2:227666945:T:C	C48R	0.934
2:227666966:T:A	C55S	0.934
2:227666967:G:C	C55S	0.934
2:227666917:C:G	C38W	0.932
2:227666926:C:G	C41W	0.932
2:227666921:T:C	C40R	0.928
2:227666933:T:C	C44R	0.928
2:227666883:G:T	R27M	0.925
2:227666958:C:A	P52H	0.914
2:227666912:T:C	C37R	0.912
2:227666923:C:G	C40W	0.910
2:227666924:T:A	C41S	0.907
2:227666925:G:C	C41S	0.907
2:227666967:G:A	C55Y	0.902
2:227666925:G:A	C41Y	0.900
2:227666945:T:A	C48S	0.899
2:227666946:G:C	C48S	0.899
2:227666936:T:C	C45R	0.898
2:227666914:C:G	C37W	0.893
2:227666947:C:G	C48W	0.893

dbSNP variants (sampled 300 via entrez): RS1000456198 (2:227665526 C>T), RS1000529256 (2:227665839 A>G), RS1002009825 (2:227665068 G>A), RS1002644693 (2:227666874 C>T), RS1004195723 (2:227666839 C>T), RS1005428637 (2:227664846 A>C,G,T), RS1008359889 (2:227665891 C>T), RS1008649673 (2:227667190 G>C,T), RS1008788872 (2:227667390 C>T), RS1009111303 (2:227667098 G>A,C), RS1010007367 (2:227667067 C>A,T), RS1010728273 (2:227666993 T>A), RS1010905994 (2:227665819 G>A), RS1010995791 (2:227666086 G>A), RS1012316788 (2:227666969 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.